Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0153500
Disease: Malignant neoplasm of heart
Malignant neoplasm of heart 		disease Neoplasms; Respiratory Tract Diseases; Cardiovascular Diseases Neoplastic Process 1 0.010 None 1.000 1 2008 2008
CUI: C4552431
Disease: Complicated urinary tract infection
Complicated urinary tract infection 		disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C1263733
Disease: Uroporphyrinuria
Uroporphyrinuria 		disease Nutritional and Metabolic Diseases Disease or Syndrome 4 0.030 None 1.000 3 2003 2012
CUI: C1276127
Disease: Sporadic porphyria cutanea tarda
Sporadic porphyria cutanea tarda 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 3 0.020 None 1.000 2 2010 2012
CUI: C0854076
Disease: Distal ileal obstruction syndrome
Distal ileal obstruction syndrome 		disease Disease or Syndrome 4 2 0.010 None 1.000 1 2017 2017
CUI: C0037997
Disease: Splenic Diseases
Splenic Diseases 		group Hemic and Lymphatic Diseases Disease or Syndrome 6 0.300 None 1.000 1 2011 2011
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 9 13 0.010 None 1.000 1 2008 2008
CUI: C1959584
Disease: Cardiac Carcinoma
Cardiac Carcinoma 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 10 4 0.010 None 1.000 1 2008 2008
CUI: C0025637
Disease: Methemoglobinemia
Methemoglobinemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 12 3 0.300 None 1.000 1 2002 2002
CUI: C1960458
Disease: Differentiation syndrome due to and following chemotherapy co-occurrent with acute promyelocytic leukemia
Differentiation syndrome due to and following chemotherapy co-occurrent with acute promyelocytic leukemia 		disease Neoplasms Disease or Syndrome 12 0.010 None 1.000 1 2013 2013
CUI: C4284120
Disease: Ecstasy related disorders
Ecstasy related disorders 		disease Mental or Behavioral Dysfunction 15 0.010 None 1.000 1 2017 2017
CUI: C0241880
Disease: Endometriosis of pelvis
Endometriosis of pelvis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 20 0.010 None 1.000 1 2000 2000
CUI: C0809983
Disease: Schizophrenia and related disorders
Schizophrenia and related disorders 		group Mental Disorders Disease or Syndrome 20 5 0.310 None 1.000 1 2010 2010
CUI: C1260965
Disease: Lipoblastoma
Lipoblastoma 		disease Neoplasms Neoplastic Process 20 0.010 None 1.000 1 2007 2007
CUI: C1827377
Disease: Slow acetylator due to N-acetyltransferase enzyme variant
Slow acetylator due to N-acetyltransferase enzyme variant 		disease Disease or Syndrome 20 8 0.010 None 1.000 1 2020 2020
CUI: C0017411
Disease: Female Genital Diseases
Female Genital Diseases 		group Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 21 3 0.010 None 1.000 1 2006 2006
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2010 2010
CUI: C0152234
Disease: Iniencephaly
Iniencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2010 2010
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2010 2010
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 29 0.300 None 1.000 1 2010 2010
CUI: C0860564
Disease: Retinoic acid syndrome
Retinoic acid syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 29 3 0.010 None 1.000 1 2013 2013
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 30 39 0.360 None 0.833 6 2000 2012
CUI: C0273115
Disease: Lung Injury
Lung Injury 		disease Respiratory Tract Diseases; Wounds and Injuries Injury or Poisoning 30 0.300 None 1.000 1 2015 2015
CUI: C0702169
Disease: Acrania
Acrania 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 31 0.300 None 1.000 1 2010 2010
CUI: C2350344
Disease: Chronic Lung Injury
Chronic Lung Injury 		disease Respiratory Tract Diseases; Wounds and Injuries Disease or Syndrome 33 0.300 None 1.000 1 2015 2015